Associate Professor Leslie Sheffield is an Australian geneticist who led the creation of the Down Syndrome screening program in Melbourne. [1] [2]
He has conducted research on personalised medicine. [3] [4] [5] [6]
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Michael Paul Vaughan is an English cricket commentator and former cricketer who played all forms of the game. He served as England captain for the test team from 2003 to 2008, the one-day international team from 2003 to 2007, and was the first Twenty20 England captain from 2005 to 2007. He represented Yorkshire in the domestic arena.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.
WEHI, previously known as the Walter and Eliza Hall Institute of Medical Research, and as the Walter and Eliza Hall Institute, is Australia's oldest medical research institute. Sir Frank Macfarlane Burnet, who won the Nobel Prize in 1960 for his work in immunology, was director from 1944 to 1965. Burnet developed the ideas of clonal selection and acquired immune tolerance. Later, Professor Donald Metcalf discovered and characterised colony-stimulating factors. As of 2015, the institute hosted more than 750 researchers who work to understand, prevent and treat diseases including blood, breast and ovarian cancers; inflammatory diseases (autoimmunity) such as rheumatoid arthritis, type 1 diabetes and coeliac disease; and infectious diseases such as malaria, HIV and hepatitis B and C.
Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Personalized medicine, also referred to as precision medicine, is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease. The terms personalized medicine, precision medicine, stratified medicine and P4 medicine are used interchangeably to describe this concept, though some authors and organizations differentiate between these expressions based on particular nuances. P4 is short for "predictive, preventive, personalized and participatory".
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
Pappalysin-1, also known as pregnancy-associated plasma protein A, and insulin-like growth factor binding protein-4 protease is a protein encoded by the PAPPA gene in humans. PAPPA is a secreted protease whose main substrate is insulin-like growth factor binding proteins. Pappalysin-1 is also used in screening tests for Down syndrome.
The England national cricket team toured Australia and Ceylon in 1891–92.
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
Nathan Michael Lyon is an Australian international cricketer. He made his Test debut in 2011 and plays domestic cricket for New South Wales. Lyon is an off-spin bowler and a lower-order right-handed batsman. Considered the most successful off-spin bowler of all time for Australia, Lyon holds the record for the most Test wickets taken by an Australian off-spin bowler, passing Hugh Trumble's 141 wickets in 2015. In January 2021, Lyon played in his 100th Test match during Australia's series against India. As of December 2023, Lyon is Australia's third highest test wicket taker of all time and ranks eighth among all international players in test cricket with over 500 wickets to his name. Lyon was a member of the Australian team that won the 2023 ICC World Test Championship final.
Victor Dubowitz, FRCP, Hon FRCPCH is a British neurologist and professor emeritus at Imperial College London. He is principally known along with his wife Lilly Dubowitz for developing two clinical tests, the Dubowitz Score to estimate gestational age and the other for the systematic neurological examination of the newborn.
Simon Duffy is a British welfare rights researcher, philosopher, activist and co-founder of Citizen Network and the Centre for Welfare Reform.
John Lewis Emery was a British-born paediatric pathologist and emeritus professor at the University of Sheffield. Emery was most notable for being one of the founding fathers of paediatric pathology in the country, and for conducting research into haematology, developmental anatomy, congenital deformities, particularly hydrocephalus, and was probably Britain's leading scientist in the subject of unexplained infant deaths, or cot death.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly, and radioulnar synostosis. Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
Michael Terrence Gabbett is an Australian clinical geneticist and academic. He holds academic titles at a number of universities in South East Queensland. Gabbett is known for contributing to discovering the genetic basis of semi-identical (sesquizygotic) twins and defining the clinical features and molecular cause of Temple-Baraitser syndrome.